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UniProtKB - P48735 (IDHP_HUMAN)

Entry version 207 (29 Sep 2021)
Sequence version 2 (03 Apr 2002)
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Protein

Isocitrate dehydrogenase [NADP], mitochondrial

Gene

IDH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarityNote: Binds 1 Mg2+ or Mn2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei117SubstrateBy similarity1
Binding sitei122NADPBy similarity1
Binding sitei149SubstrateBy similarity1
Binding sitei172SubstrateBy similarity1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei179Critical for catalysisBy similarity1
Sitei251Critical for catalysisBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi291Magnesium or manganeseBy similarity1
Binding sitei299NADPBy similarity1
Metal bindingi314Magnesium or manganeseBy similarity1
Binding sitei367NADP; via amide nitrogen and carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi115 – 117NADPBy similarity3
Nucleotide bindingi349 – 354NADPBy similarity6

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processGlyoxylate bypass, Tricarboxylic acid cycle
LigandMagnesium, Manganese, Metal-binding, NADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00021-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.1.1.42, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P48735

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-71403, Citric acid cycle (TCA cycle)

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P48735

SIGNOR Signaling Network Open Resource

More...SIGNORi		P48735

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Isocitrate dehydrogenase [NADP], mitochondrial (EC:1.1.1.42)
Short name:
IDH
Alternative name(s):
ICD-M
IDP
NADP(+)-specific ICDH
Oxalosuccinate decarboxylase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IDH2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:5383, IDH2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		147650, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48735

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000182054

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

D-2-hydroxyglutaric aciduria 2 (D2HGA2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065174140R → G in D2HGA2. 1 PublicationCorresponds to variant dbSNP:rs267606870Ensembl.1
Natural variantiVAR_065175140R → Q in D2HGA2. 1 PublicationCorresponds to variant dbSNP:rs121913502Ensembl.1
Glioma (GLM)2 Publications
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionGliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073181158P → L in GLM; somatic mutation. 1 Publication1
Natural variantiVAR_073182162P → S in GLM; somatic mutation. 1 Publication1
Natural variantiVAR_073183172R → G in GLM; somatic mutation; reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1057519906Ensembl.1
Natural variantiVAR_073184172R → K in GLM; somatic mutation; reduces enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs121913503Ensembl.1
Natural variantiVAR_073185172R → M in GLM; somatic mutation; reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121913503Ensembl.1
enetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi413K → A: 44-fold loss in activity. 1 Publication1
Mutagenesisi413K → Q: 20-fold decrease in Vmax. 1 Publication1
Mutagenesisi413K → R: No appreciable difference in Km for isocitrate and NADP. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		3418

MalaCards human disease database

More...MalaCardsi		IDH2
MIMi137800, phenotype
613657, phenotype

Open Targets

More...OpenTargetsi		ENSG00000182054

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		251589, Anaplastic astrocytoma
251663, Anaplastic oligoastrocytoma
251630, Anaplastic oligodendroglioma
79315, D-2-hydroxyglutaric aciduria
251601, Fibrillary astrocytoma
251604, Gemistocytic astrocytoma
163634, Maffucci syndrome
251656, Oligoastrocytoma
251627, Oligodendroglioma
296, Ollier disease
251598, Protoplasmic astrocytoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29631

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P48735, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3991501

Drug and drug target database

More...DrugBanki		DB13874, Enasidenib
DB01727, Isocitric Acid

DrugCentral

More...DrugCentrali		P48735

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IDH2

Domain mapping of disease mutations (DMDM)

More...DMDMi		20141568

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 39MitochondrionBy similarityAdd BLAST39
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001442040 – 452Isocitrate dehydrogenase [NADP], mitochondrialAdd BLAST413

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei45N6-acetyllysineBy similarity1
Modified residuei48N6-acetyllysineBy similarity1
Modified residuei67N6-acetyllysineCombined sources1
Modified residuei69N6-acetyllysineBy similarity1
Modified residuei80N6-acetyllysine; alternateBy similarity1
Modified residuei80N6-succinyllysine; alternateBy similarity1
Modified residuei106N6-acetyllysine; alternateCombined sources1
Modified residuei106N6-succinyllysine; alternateBy similarity1
Modified residuei155N6-acetyllysineCombined sources1
Modified residuei166N6-acetyllysine; alternateCombined sources1
Modified residuei166N6-succinyllysine; alternateBy similarity1
Modified residuei180N6-acetyllysine; alternateCombined sources1
Modified residuei180N6-succinyllysine; alternateBy similarity1
Modified residuei193N6-acetyllysine; alternateBy similarity1
Modified residuei193N6-succinyllysine; alternateBy similarity1
Modified residuei199N6-acetyllysineBy similarity1
Modified residuei256N6-acetyllysine; alternateCombined sources1
Modified residuei256N6-succinyllysine; alternateBy similarity1
Modified residuei263N6-acetyllysineCombined sources1
Modified residuei272N6-acetyllysineCombined sources1
Modified residuei275N6-acetyllysineCombined sources1
Modified residuei280N6-acetyllysineBy similarity1
Modified residuei282N6-acetyllysine; alternateCombined sources1
Modified residuei282N6-succinyllysine; alternateBy similarity1
Modified residuei384N6-acetyllysine; alternateBy similarity1
Modified residuei384N6-succinyllysine; alternateBy similarity1
Modified residuei400N6-acetyllysineBy similarity1
Modified residuei413N6-acetyllysine1 Publication1
Modified residuei442N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-221
CPTAC-222

Encyclopedia of Proteome Dynamics

More...EPDi		P48735

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P48735

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P48735

MaxQB - The MaxQuant DataBase

More...MaxQBi		P48735

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P48735

PeptideAtlas

More...PeptideAtlasi		P48735

PRoteomics IDEntifications database

More...PRIDEi		P48735

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4054
55932 [P48735-1]

2D gel databases

USC-OGP 2-DE database

More...OGPi		P48735

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P48735

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P48735

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P48735, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P48735

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P48735

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P48735

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P48735

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000182054, Expressed in muscle of leg and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P48735, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48735, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000182054, Tissue enhanced (heart muscle, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109644, 116 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P48735

Database of interacting proteins

More...DIPi		DIP-61416N

Protein interaction database and analysis system

More...IntActi		P48735, 24 interactors

Molecular INTeraction database

More...MINTi		P48735

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000331897

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P48735

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P48735, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P48735

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni134 – 140Substrate bindingBy similarity7

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the isocitrate and isopropylmalate dehydrogenases family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1526, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012547

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023296_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48735

Identification of Orthologs from Complete Genome Data

More...OMAi		YALMKKW

Database of Orthologous Groups

More...OrthoDBi		1029485at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48735

TreeFam database of animal gene trees

More...TreeFami		TF300428

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019818, IsoCit/isopropylmalate_DH_CS
IPR004790, Isocitrate_DH_NADP
IPR024084, IsoPropMal-DH-like_dom

The PANTHER Classification System

More...PANTHERi		PTHR11822, PTHR11822, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00180, Iso_dh, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000108, IDH_NADP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01329, Iso_dh, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00127, nadp_idh_euk, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00470, IDH_IMDH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48735-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGYLRVVRS LCRASGSRPA WAPAALTAPT SQEQPRRHYA DKRIKVAKPV 
        60         70         80         90        100
VEMDGDEMTR IIWQFIKEKL ILPHVDIQLK YFDLGLPNRD QTDDQVTIDS 
       110        120        130        140        150
ALATQKYSVA VKCATITPDE ARVEEFKLKK MWKSPNGTIR NILGGTVFRE 
       160        170        180        190        200
PIICKNIPRL VPGWTKPITI GRHAHGDQYK ATDFVADRAG TFKMVFTPKD 
       210        220        230        240        250
GSGVKEWEVY NFPAGGVGMG MYNTDESISG FAHSCFQYAI QKKWPLYMST 
       260        270        280        290        300
KNTILKAYDG RFKDIFQEIF DKHYKTDFDK NKIWYEHRLI DDMVAQVLKS 
       310        320        330        340        350
SGGFVWACKN YDGDVQSDIL AQGFGSLGLM TSVLVCPDGK TIEAEAAHGT 
       360        370        380        390        400
VTRHYREHQK GRPTSTNPIA SIFAWTRGLE HRGKLDGNQD LIRFAQMLEK 
       410        420        430        440        450
VCVETVESGA MTKDLAGCIH GLSNVKLNEH FLNTTDFLDT IKSNLDRALG 

RQ
Length:452
Mass (Da):50,909
Last modified:April 3, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4DDC830AFC06AB52
GO
Isoform 2 (identifier: P48735-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:400
Mass (Da):45,180
Checksum:iF1274A2EC2243D5E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YL11H0YL11_HUMAN
IDP
IDH2
312Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLL5H0YLL5_HUMAN
Isocitrate dehydrogenase [NADP], mi...
IDH2
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti34Q → H in CAA49208 (Ref. 1) Curated1
Sequence conflicti435T → M in CAA49208 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065174140R → G in D2HGA2. 1 PublicationCorresponds to variant dbSNP:rs267606870Ensembl.1
Natural variantiVAR_065175140R → Q in D2HGA2. 1 PublicationCorresponds to variant dbSNP:rs121913502Ensembl.1
Natural variantiVAR_073181158P → L in GLM; somatic mutation. 1 Publication1
Natural variantiVAR_073182162P → S in GLM; somatic mutation. 1 Publication1
Natural variantiVAR_073183172R → G in GLM; somatic mutation; reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1057519906Ensembl.1
Natural variantiVAR_073184172R → K in GLM; somatic mutation; reduces enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs121913503Ensembl.1
Natural variantiVAR_073185172R → M in GLM; somatic mutation; reduces enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121913503Ensembl.1
Natural variantiVAR_076512172R → S Found in patients with cartilagenous tumors. 1 PublicationCorresponds to variant dbSNP:rs1057519736Ensembl.1
Natural variantiVAR_076513172R → T Found in patients with cartilagenous tumors. 1 Publication1
Natural variantiVAR_076514172R → W Found in patients with cartilagenous tumors. 1 PublicationCorresponds to variant dbSNP:rs1057519906Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0562781 – 52Missing in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X69433 mRNA Translation: CAA49208.1
AK294148 mRNA Translation: BAG57473.1
AK312627 mRNA Translation: BAG35513.1
AK316388 mRNA Translation: BAH14759.1
AC087284 Genomic DNA No translation available.
AC092769 Genomic DNA No translation available.
CH471101 Genomic DNA Translation: EAX02082.1
BC009244 mRNA Translation: AAH09244.1
BC071828 mRNA Translation: AAH71828.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10359.1 [P48735-1]
CCDS76792.1 [P48735-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S57499

NCBI Reference Sequences

More...RefSeqi		NP_001276839.1, NM_001289910.1 [P48735-2]
NP_001277043.1, NM_001290114.1
NP_002159.2, NM_002168.3 [P48735-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000330062; ENSP00000331897; ENSG00000182054 [P48735-1]
ENST00000540499; ENSP00000446147; ENSG00000182054 [P48735-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3418

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3418

UCSC genome browser

More...UCSCi		uc002box.4, human [P48735-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X69433 mRNA Translation: CAA49208.1
AK294148 mRNA Translation: BAG57473.1
AK312627 mRNA Translation: BAG35513.1
AK316388 mRNA Translation: BAH14759.1
AC087284 Genomic DNA No translation available.
AC092769 Genomic DNA No translation available.
CH471101 Genomic DNA Translation: EAX02082.1
BC009244 mRNA Translation: AAH09244.1
BC071828 mRNA Translation: AAH71828.1
CCDSiCCDS10359.1 [P48735-1]
CCDS76792.1 [P48735-2]
PIRiS57499
RefSeqiNP_001276839.1, NM_001289910.1 [P48735-2]
NP_001277043.1, NM_001290114.1
NP_002159.2, NM_002168.3 [P48735-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JA8X-ray1.55A/B41-452[»]
5GISX-ray1.93C165-180[»]
5I95X-ray1.54A40-452[»]
5I96X-ray1.55A/B1-452[»]
5SVNX-ray2.10A/B40-452[»]
5SVOX-ray1.87A/B40-452[»]
6ADIX-ray1.97A/B41-452[»]
6UJ7X-ray1.90C/F134-143[»]
6UJ8X-ray2.25C/F134-143[»]
6UJ9X-ray2.90C134-143[»]
6VFZX-ray1.99A/B1-452[»]
SMRiP48735
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109644, 116 interactors
CORUMiP48735
DIPiDIP-61416N
IntActiP48735, 24 interactors
MINTiP48735
STRINGi9606.ENSP00000331897

Chemistry databases

BindingDBiP48735
ChEMBLiCHEMBL3991501
DrugBankiDB13874, Enasidenib
DB01727, Isocitric Acid
DrugCentraliP48735

PTM databases

CarbonylDBiP48735
GlyGeniP48735, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP48735
MetOSiteiP48735
PhosphoSitePlusiP48735
SwissPalmiP48735

Genetic variation databases

BioMutaiIDH2
DMDMi20141568

2D gel databases

OGPiP48735
UCD-2DPAGEiP48735

Proteomic databases

CPTACiCPTAC-221
CPTAC-222
EPDiP48735
jPOSTiP48735
MassIVEiP48735
MaxQBiP48735
PaxDbiP48735
PeptideAtlasiP48735
PRIDEiP48735
ProteomicsDBi4054
55932 [P48735-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P48735, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		15858, 459 antibodies

The DNASU plasmid repository

More...DNASUi		3418

Genome annotation databases

EnsembliENST00000330062; ENSP00000331897; ENSG00000182054 [P48735-1]
ENST00000540499; ENSP00000446147; ENSG00000182054 [P48735-2]
GeneIDi3418
KEGGihsa:3418
UCSCiuc002box.4, human [P48735-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3418
DisGeNETi3418

GeneCards: human genes, protein and diseases

More...GeneCardsi		IDH2
HGNCiHGNC:5383, IDH2
HPAiENSG00000182054, Tissue enhanced (heart muscle, skeletal muscle)
MalaCardsiIDH2
MIMi137800, phenotype
147650, gene
613657, phenotype
neXtProtiNX_P48735
OpenTargetsiENSG00000182054
Orphaneti251589, Anaplastic astrocytoma
251663, Anaplastic oligoastrocytoma
251630, Anaplastic oligodendroglioma
79315, D-2-hydroxyglutaric aciduria
251601, Fibrillary astrocytoma
251604, Gemistocytic astrocytoma
163634, Maffucci syndrome
251656, Oligoastrocytoma
251627, Oligodendroglioma
296, Ollier disease
251598, Protoplasmic astrocytoma
PharmGKBiPA29631
VEuPathDBiHostDB:ENSG00000182054

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1526, Eukaryota
GeneTreeiENSGT00390000012547
HOGENOMiCLU_023296_1_1_1
InParanoidiP48735
OMAiYALMKKW
OrthoDBi1029485at2759
PhylomeDBiP48735
TreeFamiTF300428

Enzyme and pathway databases

BioCyciMetaCyc:HS00021-MONOMER
BRENDAi1.1.1.42, 2681
PathwayCommonsiP48735
ReactomeiR-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-71403, Citric acid cycle (TCA cycle)
SABIO-RKiP48735
SIGNORiP48735

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3418, 8 hits in 1019 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		IDH2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IDH2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3418
PharosiP48735, Tclin

Protein Ontology

More...PROi		PR:P48735
RNActiP48735, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000182054, Expressed in muscle of leg and 248 other tissues
ExpressionAtlasiP48735, baseline and differential
GenevisibleiP48735, HS

Family and domain databases

InterProiView protein in InterPro
IPR019818, IsoCit/isopropylmalate_DH_CS
IPR004790, Isocitrate_DH_NADP
IPR024084, IsoPropMal-DH-like_dom
PANTHERiPTHR11822, PTHR11822, 1 hit
PfamiView protein in Pfam
PF00180, Iso_dh, 1 hit
PIRSFiPIRSF000108, IDH_NADP, 1 hit
SMARTiView protein in SMART
SM01329, Iso_dh, 1 hit
TIGRFAMsiTIGR00127, nadp_idh_euk, 1 hit
PROSITEiView protein in PROSITE
PS00470, IDH_IMDH, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIDHP_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48735
Secondary accession number(s): B2R6L6, B4DFL2, Q96GT3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: April 3, 2002
Last modified: September 29, 2021
This is version 207 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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